Aminoacylation-defective bi-allelic mutations in human EPRS1 associated with psychomotor developmental delay, epilepsy, and deafness.
| dc.rights.license | open | en_US |
| dc.contributor.author | JIN, Danni | |
| dc.contributor.author | WEK, Sheree A | |
| dc.contributor.author | CORDOVA, Ricardo A | |
| dc.contributor.author | WEK, Ronald C | |
| hal.structure.identifier | CHU Bordeaux | |
| hal.structure.identifier | Laboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM] | |
| dc.contributor.author | LACOMBE, Didier | |
| hal.structure.identifier | CHU Bordeaux | |
| hal.structure.identifier | Laboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM] | |
| dc.contributor.author | MICHAUD, Vincent
IDREF: 243713878 | |
| dc.contributor.author | MUSIER-FORSYTH, Karin | |
| dc.date.accessioned | 2023-11-14T14:10:35Z | |
| dc.date.available | 2023-11-14T14:10:35Z | |
| dc.date.issued | 2023-03-01 | |
| dc.identifier.issn | 1399-0004 | en_US |
| dc.identifier.uri | https://oskar-bordeaux.fr/handle/20.500.12278/184757 | |
| dc.description.abstractEn | Aminoacyl-tRNA synthetases are enzymes that ensure accurate protein synthesis. Variants of the dual-functional cytoplasmic human glutamyl-prolyl-tRNA synthetase, EPRS1, have been associated with leukodystrophy, diabetes and bone disease. Here, we report compound heterozygous variants in EPRS1 in a 4-year-old female patient presenting with psychomotor developmental delay, seizures and deafness. Functional studies of these two missense mutations support major defects in enzymatic function in vitro and contributed to confirmation of the diagnosis. | |
| dc.language.iso | EN | en_US |
| dc.rights | Attribution 3.0 United States | * |
| dc.rights.uri | http://creativecommons.org/licenses/by/3.0/us/ | * |
| dc.subject | Aminoacylation | |
| dc.subject | Aminoacyl-tRNA synthetase | |
| dc.subject | EPRS1 | |
| dc.subject | Exome sequencing | |
| dc.subject | Integrated stress response | |
| dc.subject | Leukodystrophy | |
| dc.subject | Psychomotor developmental delay | |
| dc.subject | tRNA | |
| dc.title.en | Aminoacylation-defective bi-allelic mutations in human EPRS1 associated with psychomotor developmental delay, epilepsy, and deafness. | |
| dc.title.alternative | Clin Genet | en_US |
| dc.type | Article de revue | en_US |
| dc.identifier.doi | 10.1111/cge.14269 | en_US |
| dc.subject.hal | Sciences du Vivant [q-bio]/Génétique | en_US |
| dc.identifier.pubmed | 36411955 | en_US |
| bordeaux.journal | Clinical Genetics | en_US |
| bordeaux.page | 358-363 | en_US |
| bordeaux.volume | 103 | en_US |
| bordeaux.hal.laboratories | Maladies Rares : Génétique et Métabolisme (MRGM) - UMR 1211 | en_US |
| bordeaux.issue | 3 | en_US |
| bordeaux.institution | Université de Bordeaux | en_US |
| bordeaux.institution | INSERM | en_US |
| bordeaux.peerReviewed | oui | en_US |
| bordeaux.inpress | non | en_US |
| bordeaux.import.source | pubmed | |
| hal.identifier | hal-04285062 | |
| hal.version | 1 | |
| hal.date.transferred | 2023-11-14T14:10:39Z | |
| hal.popular | non | en_US |
| hal.audience | Internationale | en_US |
| hal.export | true | |
| workflow.import.source | pubmed | |
| dc.rights.cc | CC BY-SA | en_US |
| bordeaux.COinS | ctx_ver=Z39.88-2004&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.jtitle=Clinical%20Genetics&rft.date=2023-03-01&rft.volume=103&rft.issue=3&rft.spage=358-363&rft.epage=358-363&rft.eissn=1399-0004&rft.issn=1399-0004&rft.au=JIN,%20Danni&WEK,%20Sheree%20A&CORDOVA,%20Ricardo%20A&WEK,%20Ronald%20C&LACOMBE,%20Didier&rft.genre=article |
